Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000361298 [[102631267, 102631541], [102631955, 102632034], [102632437, 102633005]] [[102632449, 102632755]]
ENST00000372645 [[102631322, 102631541], [102631955, 102632034], [102632390, 102633005]] [[102632419, 102632755]]
ENST00000372635 [[102631334, 102631541], [102632390, 102632988]] [[102632419, 102632755]]
ENST00000372634 [[102631843, 102632034], [102632437, 102632999]] [[102632449, 102632755]]
ENST00000299872 [[102632108, 102632992]] [[102632419, 102632755]]
NM_001282674 [[102631250, 102631541], [102632390, 102633092]] [[102631330, 102631541], [102632390, 102632755]]
NM_206917 [[102631250, 102631541], [102631955, 102632034], [102632437, 102633092]] [[102632449, 102632755]]
NM_206915 [[102631250, 102631541], [102631955, 102632034], [102632390, 102633092]] [[102632419, 102632755]]
NM_014380 [[102632108, 102633092]] [[102632419, 102632755]]
Promoter
Chrom Start End Description
chrX 102631233 102631245 CAGE_peak_6_at_NGFRAP1_5end
chrX 102631248 102631329 CAGE_peak_3_at_NGFRAP1_5end
chrX 102631431 102631442 CAGE_peak_2_at_NGFRAP1_5end
chrX 102631457 102631472 CAGE_peak_1_at_NGFRAP1_5end
chrX 102631951 102631988 CAGE_peak_5_at_NGFRAP1_5end
chrX 102632720 102632761 CAGE_peak_8_at_NGFRAP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chrX GH0XI103151 103151637 103152980 1.15 [{'connected_gene': 'GPRASP1', 'score': 42.63}, {'connected_gene': 'BEX4', 'score': 32.18}, {'connected_gene': 'TCEAL3', 'score': 23.23}, {'connected_gene': 'ELF2P1', 'score': 20.56}, {'connected_gene': 'TMSB15B', 'score': 13.65}, {'connected_gene': 'ZCCHC18', 'score': 13.12}, {'connected_gene': 'GPRASP2', 'score': 13.09}, {'connected_gene': 'BEX3', 'score': 13.0}, {'connected_gene': 'TCEAL7', 'score': 12.84}, {'connected_gene': 'TCEAL1', 'score': 12.83}, {'connected_gene': 'BHLHB9', 'score': 12.51}, {'connected_gene': 'MORF4L2-AS1', 'score': 12.38}, {'connected_gene': 'ARMCX5-GPRASP2', 'score': 12.29}, {'connected_gene': 'RAB9B', 'score': 11.92}, {'connected_gene': 'TCEAL5', 'score': 11.23}, {'connected_gene': 'ARMCX5', 'score': 11.11}, {'connected_gene': 'TCEAL8', 'score': 10.51}, {'connected_gene': 'MORF4L2', 'score': 9.78}, {'connected_gene': 'LINC00630', 'score': 9.74}, {'connected_gene': 'TCEAL4', 'score': 9.72}, {'connected_gene': 'BEX1', 'score': 9.63}, {'connected_gene': 'GC0XM103156', 'score': 0.77}, {'connected_gene': 'PIR57742', 'score': 0.28}]
chrX GH0XI103607 103607324 103609181 1.74 [{'connected_gene': 'TCEAL3', 'score': 550.77}, {'connected_gene': 'GC0XM103601', 'score': 550.77}, {'connected_gene': 'BEX3', 'score': 4.09}, {'connected_gene': 'TCEAL3-AS1', 'score': 0.37}, {'connected_gene': 'LOC105373302', 'score': 0.34}]
chrX GH0XI103359 103359733 103360746 0.74 [{'connected_gene': 'TCEAL7', 'score': 12.71}, {'connected_gene': 'MORF4L2-AS1', 'score': 10.23}, {'connected_gene': 'TCEAL9', 'score': 0.77}, {'connected_gene': 'BEX3', 'score': 0.37}]
chrX GH0XI103396 103396032 103399548 1.18 [{'connected_gene': 'BEX4', 'score': 15.49}, {'connected_gene': 'TCEAL9', 'score': 12.49}, {'connected_gene': 'TCEAL4', 'score': 3.92}, {'connected_gene': 'ENSG00000281091', 'score': 0.44}, {'connected_gene': 'LL0XNC01-250H12.3', 'score': 0.44}, {'connected_gene': 'BEX3', 'score': 0.34}]
chrX GH0XI103446 103446257 103447682 0.43 [{'connected_gene': 'BEX4', 'score': 16.19}, {'connected_gene': 'BEX3', 'score': 13.13}, {'connected_gene': 'PIR37216', 'score': 0.37}, {'connected_gene': 'PIR62779', 'score': 0.31}, {'connected_gene': 'LL0XNC01-250H12.3', 'score': 0.26}]
chrX GH0XI103441 103441548 103443254 0.58 [{'connected_gene': 'BEX4', 'score': 16.2}, {'connected_gene': 'BEX3', 'score': 13.14}, {'connected_gene': 'ENSG00000234405', 'score': 11.19}, {'connected_gene': 'LOC100420653', 'score': 11.13}, {'connected_gene': 'TCEAL8', 'score': 11.12}, {'connected_gene': 'PIR37216', 'score': 0.37}, {'connected_gene': 'PIR62779', 'score': 0.29}, {'connected_gene': 'LL0XNC01-250H12.3', 'score': 0.28}]
chrX GH0XI103438 103438893 103441515 0.54 [{'connected_gene': 'BEX4', 'score': 16.2}, {'connected_gene': 'BEX3', 'score': 12.4}, {'connected_gene': 'ENSG00000234405', 'score': 11.19}, {'connected_gene': 'LOC100420653', 'score': 11.13}, {'connected_gene': 'TCEAL8', 'score': 11.12}, {'connected_gene': 'PIR37216', 'score': 0.39}, {'connected_gene': 'PIR62779', 'score': 0.29}, {'connected_gene': 'LL0XNC01-250H12.3', 'score': 0.28}]
chrX GH0XI103690 103690084 103697152 0.57 [{'connected_gene': 'PLP1', 'score': 13.07}, {'connected_gene': 'TCEAL3', 'score': 12.59}, {'connected_gene': 'BEX4', 'score': 9.62}, {'connected_gene': 'BEX2', 'score': 7.22}, {'connected_gene': 'ZCCHC18', 'score': 4.35}, {'connected_gene': 'BEX3', 'score': 3.84}, {'connected_gene': 'MORF4L2', 'score': 0.44}, {'connected_gene': 'MORF4L2-AS1', 'score': 0.44}, {'connected_gene': 'TMEM31', 'score': 0.37}]
chrX GH0XI103355 103355593 103358000 1.86 [{'connected_gene': 'TCEAL9', 'score': 550.77}, {'connected_gene': 'BEX4', 'score': 4.68}, {'connected_gene': 'BEX3', 'score': 0.37}]
chrX GH0XI103464 103464003 103465198 0.85 [{'connected_gene': 'TCEAL9', 'score': 13.47}, {'connected_gene': 'BEX3', 'score': 12.48}, {'connected_gene': 'RAB40A', 'score': 10.48}, {'connected_gene': 'PIR62779', 'score': 0.44}, {'connected_gene': 'PIR37216', 'score': 0.28}, {'connected_gene': 'LL0XNC01-250H12.3', 'score': 0.22}]
chrX GH0XI103423 103423397 103425042 0.6 [{'connected_gene': 'MORF4L2-AS1', 'score': 27.9}, {'connected_gene': 'BEX4', 'score': 23.24}, {'connected_gene': 'LINC00630', 'score': 12.98}, {'connected_gene': 'BEX3', 'score': 12.21}, {'connected_gene': 'ARMCX5', 'score': 11.75}, {'connected_gene': 'ENSG00000239407', 'score': 10.77}, {'connected_gene': 'PIR37216', 'score': 0.77}, {'connected_gene': 'LL0XNC01-250H12.3', 'score': 0.37}, {'connected_gene': 'ENSG00000281091', 'score': 0.37}]
chrX GH0XI103375 103375926 103377992 1.84 [{'connected_gene': 'BEX3', 'score': 554.77}, {'connected_gene': 'ENSG00000281091', 'score': 0.31}, {'connected_gene': 'LL0XNC01-250H12.3', 'score': 0.31}]
chrX GH0XI103403 103403994 103405600 1.35 [{'connected_gene': 'ENSG00000281091', 'score': 550.77}, {'connected_gene': 'LL0XNC01-250H12.3', 'score': 550.77}, {'connected_gene': 'BEX4', 'score': 23.24}, {'connected_gene': 'TCEAL5', 'score': 12.23}, {'connected_gene': 'BEX3', 'score': 4.31}, {'connected_gene': 'PIR37216', 'score': 0.34}]